小编整理了部分单基病的目录，中英文对照，以及对应的基因名称，这些单基因病可以用PGD筛查的，这些单基因病结合国内颁布的首批罕见病目录做了整理，由于中英文疾病的名称不统一，我们会继续整理完善。
表格宽度较宽，请用电脑浏览。
| 单基因病英文名称 | 基因检测 | 单基因病中文名称 | 国家罕见病目录 |
| A | |||
| Aarskog | FGD1 | Aarskog Scott 症候群 | |
| Achondroplasia | FGFR3 | 软骨发育不全 | |
| Adrenoleukodystrophy | ABCD1 | 肾上腺脑白质失养症 | |
| Agammaglobulinemia | BTK | ||
| Alagille Syndrome | JAG1 | 阿拉吉欧症候群 | |
| Alpha Thalassemia | HBA | α地中海贫血症 | |
| Alpha-antitrypsin | AAT | ||
| Alport Syndrome | COL4A5 | Alport综合征 | 是 |
| Amyloidosis | TTR | ||
| Aniridia | PAX6 | 先天性虹膜缺损 | |
| Ankylosing spondylitis | HLA-B27 | ||
| Argininosuccinic Aciduria | ASL | 精胺丁二酸酵素缺乏症 | |
| Autoimmune Polyendocrine Syndrome | AIRE | ||
| Apert/Crouzon/Pfeiffer | FGFR2 | 亚伯氏症/克鲁松氏症候群/Pfeiffer症候群 | |
| B | |||
| Bardet Biedl Syndrome | BBS1, BBS10 | 巴德-毕德氏综合征 | |
| Barth Dilated Cardiomyopathy | TAZ | ||
| Basal Cell Nevus Syndrome aka gorlin | PTCH | ||
| Beta Thalassemia | HBB | ||
| Birt-Hogge-Dube | FLCN | ||
| Blepharophimosis-ptosis-epicanthus inversus | FOXL2 | 先天性家族性睑口狭小症 | |
| Brachydactyly | GDF5 | ||
| Brachydactyly - Hypertension Syndrome | HTNB | ||
| Hereditary Breast, Ovarian Cancer | BRCA1, BRCA2 | ||
| C | |||
| CADASIL - cerebral arteriopathy, AD, with subcortical infarcts and leukoencephalopathy | Notch3 | ||
| Canavan | ASPA | ||
| Carnitine - AcylCarn Translocase | SLC25A20 | ||
| Cerebral Cavernous Malformation | CCM1 | ||
| Ceroid-lipofuscinoses-Batton | PPT1 | ||
| Charcot Marie Tooth | PMP22, NEFL, GJB1, MPZ | ||
| Cherubism | SH3BP2 | ||
| Choroideremia | CHM | ||
| Chronic Granulomatous Disease | CYBB | 慢性肉芽肿病 | |
| Ciliary Dyskinesia | DNAH5 | ||
| Citrullinemia | ASS1 | 瓜氨酸血症 | 是 |
| Cleidocranial Dysplasia | RUNX2 | ||
| Cockayne Syndrome | ERCC6 | 柯凯因氏症候群 | |
| Congenital Adrenal Hyperplasia | CYP21A2 | ||
| Congenital Disorder of Glycosylation | CGD1 | ||
| Congenital Icthyosis (Harlequin) | ABCA12 | ||
| Cornelia de Lange Syndrome | NIPBL | ||
| Cystic Fibrosis | CFTR | 囊状纤维化 | |
| Cysteinyl Leukotriene Receptor 1 Deficiency | CYSLTR1 | ||
| D | |||
| D-Bifunctional Protein Deficiency | HSD17B4 | ||
| Darier Disease | ATP2A2 | Darier氏病（毛囊角化症） | |
| Deafness, Autosomal Recessive | GJB2, GJB6 | ||
| Denys-Drash Syndrome | WT1 | ||
| Desmin Storage Myopathy | DES | ||
| Duchenne/Becker MD | DMD | ||
| Dyskeratosis Congenita | DKC1 | ||
| Dystonia | TOR1A | ||
| Dystrophia Myotonica | DMPK | ||
| E | |||
| Ectodermal Dysplasia | EDA1, GJB6 | 外胚层增生不良症 | |
| Ectrodactyly- Clefting Syndrome | TP63 | ||
| Ehlers Danlos | COL3A1 | 先天结缔组织异常 | |
| Emery-Dreifuss Muscular Dystrophy | EMD, LMNA | Emery-Dreifuss 肌失养症 | |
| Epidermolysis Bullosa | KRT5, KRT14, LAMB3, ITGB4, COL7A1 | ||
| F | |||
| Fabry Disease | GLA | 法布雷病 | 是 |
| Factor V Leiden | F5 | ||
| Familial Adenomatous Polyposis | APC | ||
| Familial Dysautonomia | IKBKAP | ||
| Familial Exudative Vitreoretinopathy | FZD4 | ||
| Fanconi Anemia | FANCA, FANCC, FANDC2, FANCF, FANCJ, FANCG | 范可尼贫血 | 是 |
| Finnish Nephrosis | NPHS1 | ||
| Fragile X | FMR1 | X染色体脆折症 | |
| G | |||
| Galactosemia | GALT | 半乳糖血症 | 是 |
| Gaucher Disease | GBA | 高雪氏症 | |
| Gerstman-Straussler Disease | PRNP | ||
| Gluteric Acidemia | ETFA, GCDH | ||
| Glycogen Storage Disease | G6PC, SLC37A4, GAA | 糖原累积病 | 是 |
| gm1 gangliosidosis | GLB1 | GM1神经节苷脂贮积症 | |
| Greig Cephalopolysyndactyly | GLI3 | ||
| H | |||
| Huntington Disease - Nondisclosing | HD | 亨丁顿舞蹈症 | |
| Hemophagocytic Lymphohistiocytosis | HPLH1, PRF1 | ||
| Hemophilia A | F8 | 血友病A | |
| Hemophilia B | F9 | 血友病B | |
| Hereditary Angioedema | C1NH | 遗传性血管性水肿 | 是 |
| Hereditary Hemorrhagic Telangiectasia | HHT1 | 遗传性出血性之血管扩张症 | |
| Hereditary Leiomyomatosis | FH | ||
| Hereditary Lymphedema | FOXC2 | ||
| Hereditary Nonpolyposis Colon Cancer | MSH2, MLH1 | ||
| Hereditary Pancreatitis | PRSS1 | ||
| HLA | HLA-A | ||
| Holt-Oram | TBX5 | Holt-Oram 症候群 | |
| Homocystinuria | CBS | 高胱胺酸尿症 | |
| Hunter Syndrome | IDS | ||
| Huntington Disease | HD | 亨廷顿舞蹈病 | 是 |
| Hurler Syndrome | IDUA | ||
| Hydrocephalus, X-linked | L1CAM | ||
| Hypertrophic Cardiomyopathy | LDB3, MYH7, TNNT2, MYBPC3 | ||
| Hypokalemic periodic paralysis | SCN4A | ||
| Hypophosphatasia | ALPL | 低碱性磷酸酶血症 | 是 |
| I | |||
| Inclusion Body Myopathy with Early-Onset Paget Disease and Frontotemporal Dementia | VCP | ||
| Incontinentia Pigmenti | NEMO | 色素失调症 | |
| IPEX- immunodysregulation, polyendocrinopathy, enteropathy, x-linked | FOXP3 | ||
| J | |||
| Joubert Syndrome | INPP5E | ||
| K | |||
| Kallmann Syndrome | FGFR1 | 卡尔曼综合征 | 是 |
| KELL Antigen | KEL | ||
| Kennedy-Spinal bulbar | SMAX1 | ||
| Krabbe Disease | GALC | Krabbe氏症 | |
| L | |||
| Leber Retinal Congenital Amaurosis -X | GUCY2D, CEP290 | ||
| Leigh Complex 1 Deficiency | c20ORF7 | ||
| Leigh Syndrome | LRPPRC | Leigh症候群 | |
| Leukocyte Adhesion Deficiency | ITGB2 | ||
| Li Fraumeni Syndrome | p53 | ||
| Limb Girdle MD | POMT1, LMNA | ||
| Long QT Syndrome | KCNQ1, SCN5A, KCNE2 | ||
| M | |||
| Macular Dystrophy | VMD2 | ||
| Maple Syrup Urine Disease | BCKDHB | 讽糖尿症 | 是 |
| Marfan Syndrome | FBN1 | 马凡综合征 | 是 |
| Meckel Gruber | MKS1, MKS3 | ||
| MCADD | MCADH | ||
| Menkes | ATP7A | 缅克斯症候群 | |
| Merosin-deficient congenital muscular dystrophy 1A | Methylmalonic Acidemia | ||
| Metachromatic Leukodystrophy | ARSA | 异染性脑白质退化症 | |
| Methylmalonic Acidemia | MUT, MMACHC | 甲基丙二酸血症 | |
| Microphthalmia | CHX | ||
| Mucolipidosis 2 I-Cell | GNPTAB | ||
| Multiple Endocrine Neoplasia | MEN1, MEN2A, MEN2B | ||
| Multiple Exostoses | EXT1, EXT2 | ||
| Myasthenia Gravis | CHRNE | ||
| Myotubular Myopathy | MTM | ||
| N | |||
| NEMO immunodeficiency | NEMO | ||
| Neurofibromatosis 1 | NF1 | 神经性纤维瘤第一型 | |
| Neurofibromatosis 2 | NF2 | 神经性纤维瘤第二型 | |
| Niemann-Pick | SMPD1, NPC1 | 尼曼匹克病 | 是 |
| Nonketotic Hyperglycinemia | AMT, GLDC | 非酮性高甘胺酸血症诊断与治疗 | |
| Noonan Syndrome | KRAS, PTPN11, SOS1 | Noonan综合征 | 是 |
| Norrie Disease | NDP | ||
| O | |||
| Ocular Albinism | GPR143 | ||
| Oculocutaneous Albinism | TYR, OCA2 | 眼皮肤白化症 | |
| Oculodentaldigital Dysplasia | GJA1 | ||
| Optic Atrophy | OPA1 | ||
| Ornithine Transcarbamylase Deficiency | OTC | 鸟氨酸氨甲酰基转移酶缺乏症 | 是 |
| Osteogenesis Imperfecta | COL1A2, COL1A1 | 成骨不全症 | 是 |
| Osteopetrosis | OSTM1, CLCN7, TCIRG1 | 骨质石化症 | |
| OTOF related deafness | OTOF | ||
| P | |||
| Pachyonychia Congenita | KRT16, KRT6A | ||
| Peutz-Jeghers Syndrome | STK11 | 黑斑息肉综合征 | 是 |
| Phenylketonuria | PAH | 苯酮尿症 | |
| Pheochromocytoma | SDHB | ||
| Polycystic Kidney Disease | PKD1, PKD2 | ||
| Polycystic Kidney Disease, AR | PKHD1 | ||
| Pompe Disease | GAA | 庞贝氏症 | |
| Pseudohypoparathyroidism | GNAS1 | 假性副甲状腺低下症 | |
| R | |||
| Retinitis Pigmentosa | RHO | 视网膜色素变性症 | 是 |
| Retinoblastoma | RB1 | 视网膜母细胞瘤 | 是 |
| Retinoschesis | RS1 | ||
| Rett | MeCP2 | 蕾特氏症 | |
| RhD | RHD | ||
| Rothmund-Thomson | RECQL4 | ||
| S | |||
| Sanfillipo | SGSH | ||
| Sathre-Chozen Craniosynostosis | TWIST | ||
| Shwachman-Diamond syndrome | SBDS | ||
| SCID | ADA, IL2RG | 严重复合型免疫缺乏症 | |
| Senior-Loken Syndrome | IQCB1 | ||
| Sexing | X, Y | ||
| Short Rib Polydactyly Syndrome | DYNC2H1 | ||
| Sickle Cell Anemia | HBB | ||
| Simpson-Golabi-Behmel | GPC3 | ||
| Sjogren-Larsson | ALDH3A2 | ||
| Smith Lemli Opitz | SLOS | Smith-Lemli-Opitz症候群 | |
| Sorsby Fundus Dystrophy | TIMP3 | ||
| Spinal Muscular Atrophy | SMN1 | 脊髓性肌萎缩症 | 是 |
| Spinocerebellar Ataxia 1 | ATNX1 | 脊髓小脑性共济失调1型 | |
| Spinocerebellar Ataxia 2 | ATXN2 | 脊髓小脑性共济失调2型 | |
| Spinocerebellar Ataxia 3 | SCA3 | 脊髓小脑性共济失调3型 | |
| Spinocerebellar Ataxia 7 | ATXN7 | 脊髓小脑性共济失调7型 | |
| Spondyloepiphyseal Dysplasia | COL2A1 | 先天性脊椎骨骨后发育不全 | |
| Stickler syndrome | COL2A1 | ||
| Surfactant Pulmonary B | SFTPB | ||
| T | |||
| Tay-Sachs Disease | HEXA | Tay-Sachs症 | |
| Thrombocyenia with Beta Thalassemia | GATA1 | ||
| Torsion dystonia | DYT1 | ||
| Treacher Collins | TCOF1 | Treacher Collins症候群 | |
| Tuberous Sclerosis | TSC1, TSC2 | 结节性硬化症 | 是 |
| U | |||
| Ullrich Congenital Muscular Dystrophy | COL6A2, COL6A3 | ||
| Usher Syndrome | MYO7A | ||
| V | |||
| von Hippel-Lindau | VHL | 逢希伯-林道症候群 | |
| W | |||
| Waardenburg | MITF, PAX3 | 瓦登伯革氏症候群 | |
| Walker-Warburg Syndrome | FKTN | ||
| Wiskott-Aldrich | WAS | 湿疹血小板减少伴免疫缺陷综合征 | 是 |
| Wolman Lipase A | LIPA | ||
| Z | |||
| Zellweger | PEX1 | 赵苇格氏症 |
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